Incidental Mutation 'R2066:Fgb'
ID 226654
Institutional Source Beutler Lab
Gene Symbol Fgb
Ensembl Gene ENSMUSG00000033831
Gene Name fibrinogen beta chain
Synonyms 2510049G14Rik
MMRRC Submission 040071-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.784) question?
Stock # R2066 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 82949553-82957170 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 82956996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 25 (D25Y)
Ref Sequence ENSEMBL: ENSMUSP00000039472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048246]
AlphaFold Q8K0E8
Predicted Effect probably benign
Transcript: ENSMUST00000048246
AA Change: D25Y

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000039472
Gene: ENSMUSG00000033831
AA Change: D25Y

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 46 55 N/A INTRINSIC
Fib_alpha 80 225 1.28e-64 SMART
FBG 226 477 1.6e-140 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (79/79)
MGI Phenotype FUNCTION: This gene encodes the beta subunit of the coagulation factor fibrinogen, which is a component of the blood clot. The encoded preproprotein is proteolytically processed by thrombin to release an N-terminal fibrinopeptide during the conversion of fibrinogen to insoluble fibrin polymer. The encoded protein interacts with the amyloid beta peptide to form fibrin clots of abnormal structure, and may play an important role in Alzheimer's disease. This gene is located adjacent to the genes encoding fibrinogen alpha and gamma subunits on chromosome 3. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T A X: 66,964,308 (GRCm39) I184L probably benign Het
9530002B09Rik T A 4: 122,583,115 (GRCm39) probably benign Het
Acadl C T 1: 66,880,905 (GRCm39) probably null Het
Acss1 G A 2: 150,510,051 (GRCm39) Q23* probably null Het
Afap1l1 A T 18: 61,872,193 (GRCm39) probably null Het
Akt3 A G 1: 176,930,551 (GRCm39) S136P possibly damaging Het
Amy2a1 T C 3: 113,324,217 (GRCm39) I108V probably benign Het
Ano5 T G 7: 51,235,134 (GRCm39) L639R probably damaging Het
Arhgap26 T C 18: 39,439,781 (GRCm39) S71P probably damaging Het
B3gnt2 A G 11: 22,786,735 (GRCm39) L151P probably damaging Het
Bach1 A T 16: 87,526,513 (GRCm39) K658N probably damaging Het
Bdnf C A 2: 109,554,247 (GRCm39) T207K probably damaging Het
Bod1l G T 5: 41,962,499 (GRCm39) T2746K probably damaging Het
Brwd1 A G 16: 95,847,665 (GRCm39) S652P probably benign Het
Ccnt1 A T 15: 98,449,823 (GRCm39) H156Q probably benign Het
Clasp2 T A 9: 113,735,225 (GRCm39) I1021N possibly damaging Het
Cnep1r1 G T 8: 88,845,445 (GRCm39) probably benign Het
Cntn6 C T 6: 104,838,783 (GRCm39) R946* probably null Het
Dnaaf3 T C 7: 4,526,798 (GRCm39) I426M possibly damaging Het
Dnajc13 A T 9: 104,098,640 (GRCm39) I471N probably benign Het
Ehd1 T C 19: 6,348,108 (GRCm39) L362P probably benign Het
Emx2 A G 19: 59,450,130 (GRCm39) N149S probably benign Het
Fbln7 G T 2: 128,719,386 (GRCm39) R61L probably damaging Het
Filip1 A G 9: 79,727,498 (GRCm39) S374P probably damaging Het
Fry T A 5: 150,293,584 (GRCm39) probably benign Het
Gm12695 T C 4: 96,657,963 (GRCm39) T69A probably benign Het
Gm2959 A G 14: 42,235,658 (GRCm39) noncoding transcript Het
Gm9912 T C 3: 148,890,795 (GRCm39) T113A unknown Het
Hdlbp A G 1: 93,349,602 (GRCm39) probably benign Het
Hunk G A 16: 90,278,133 (GRCm39) probably null Het
Ifnb1 T A 4: 88,440,996 (GRCm39) I6F possibly damaging Het
Il2rg A G X: 100,311,416 (GRCm39) L57P possibly damaging Het
Ints1 A G 5: 139,753,251 (GRCm39) V720A probably benign Het
Invs T A 4: 48,396,287 (GRCm39) L320Q probably damaging Het
Jpt2 G A 17: 25,167,713 (GRCm39) Q79* probably null Het
Lingo2 A G 4: 35,709,179 (GRCm39) L267P probably benign Het
Lonp2 A G 8: 87,392,403 (GRCm39) T490A probably damaging Het
Meiob G T 17: 25,037,290 (GRCm39) R56L probably damaging Het
Mindy3 A T 2: 12,424,060 (GRCm39) S2T probably damaging Het
Mrm3 A T 11: 76,141,147 (GRCm39) D385V probably damaging Het
Mrto4 T C 4: 139,076,334 (GRCm39) K86E probably benign Het
Naf1 A G 8: 67,340,432 (GRCm39) D414G probably damaging Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Nbea A G 3: 55,875,567 (GRCm39) V1701A probably damaging Het
Nipal4 T G 11: 46,047,622 (GRCm39) D104A probably damaging Het
Npas4 A G 19: 5,037,442 (GRCm39) V284A probably damaging Het
Nup133 C A 8: 124,641,314 (GRCm39) D869Y probably damaging Het
Obscn G A 11: 59,026,558 (GRCm39) A215V possibly damaging Het
Or4c113 A G 2: 88,885,243 (GRCm39) Y176H probably damaging Het
Or8b12i G T 9: 20,082,850 (GRCm39) Q6K probably benign Het
Or8g24 T C 9: 38,989,510 (GRCm39) Y177C probably damaging Het
Pgs1 G A 11: 117,905,396 (GRCm39) probably benign Het
Phc2 T C 4: 128,640,929 (GRCm39) F672S probably damaging Het
Phldb2 A T 16: 45,591,121 (GRCm39) L970Q probably damaging Het
Plxnb3 T A X: 72,815,357 (GRCm39) Y1845* probably null Het
Ppip5k1 A G 2: 121,173,352 (GRCm39) probably benign Het
Prune2 A G 19: 17,098,042 (GRCm39) D1182G possibly damaging Het
Psg25 G A 7: 18,263,487 (GRCm39) T112I probably damaging Het
Sec61g T C 11: 16,458,124 (GRCm39) T24A probably benign Het
Skint1 T A 4: 111,882,730 (GRCm39) V258D probably benign Het
Sorbs1 T C 19: 40,353,472 (GRCm39) probably null Het
Sox2 C A 3: 34,705,456 (GRCm39) Q298K possibly damaging Het
Spatc1 T A 15: 76,167,737 (GRCm39) probably null Het
Szt2 T C 4: 118,231,177 (GRCm39) M2529V unknown Het
Thrap3 T C 4: 126,069,189 (GRCm39) Y654C possibly damaging Het
Tpp2 T G 1: 44,017,598 (GRCm39) I734S possibly damaging Het
Troap T C 15: 98,980,344 (GRCm39) L508P probably benign Het
Ttc28 C A 5: 111,373,799 (GRCm39) F1078L probably benign Het
Ttn T C 2: 76,544,717 (GRCm39) N32795S probably damaging Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Ugt2b36 T C 5: 87,240,100 (GRCm39) E95G probably benign Het
Vmn1r55 A G 7: 5,150,048 (GRCm39) V125A possibly damaging Het
Vstm2a A T 11: 16,211,483 (GRCm39) I98F probably benign Het
Zdhhc13 T A 7: 48,466,175 (GRCm39) V284D probably benign Het
Zfp668 C A 7: 127,466,203 (GRCm39) R327L probably damaging Het
Zgrf1 T C 3: 127,406,999 (GRCm39) C1589R probably damaging Het
Other mutations in Fgb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Fgb APN 3 82,950,598 (GRCm39) missense possibly damaging 0.95
IGL02129:Fgb APN 3 82,950,725 (GRCm39) missense probably benign 0.05
IGL02148:Fgb APN 3 82,950,594 (GRCm39) missense probably damaging 0.99
IGL02286:Fgb APN 3 82,950,633 (GRCm39) missense probably benign
IGL02601:Fgb APN 3 82,952,367 (GRCm39) missense probably benign 0.06
IGL02721:Fgb APN 3 82,950,674 (GRCm39) missense possibly damaging 0.89
G1patch:Fgb UTSW 3 82,951,098 (GRCm39) missense probably damaging 1.00
R1217:Fgb UTSW 3 82,950,564 (GRCm39) missense probably damaging 0.99
R1424:Fgb UTSW 3 82,954,070 (GRCm39) missense probably damaging 0.99
R1913:Fgb UTSW 3 82,952,287 (GRCm39) missense probably benign 0.03
R1990:Fgb UTSW 3 82,951,560 (GRCm39) nonsense probably null
R2063:Fgb UTSW 3 82,956,996 (GRCm39) missense probably benign 0.09
R2065:Fgb UTSW 3 82,956,996 (GRCm39) missense probably benign 0.09
R2067:Fgb UTSW 3 82,956,996 (GRCm39) missense probably benign 0.09
R2251:Fgb UTSW 3 82,950,591 (GRCm39) missense probably damaging 1.00
R4682:Fgb UTSW 3 82,950,572 (GRCm39) missense probably benign 0.00
R5045:Fgb UTSW 3 82,950,680 (GRCm39) missense probably damaging 1.00
R5573:Fgb UTSW 3 82,956,984 (GRCm39) splice site probably null
R5766:Fgb UTSW 3 82,953,483 (GRCm39) missense probably damaging 1.00
R6103:Fgb UTSW 3 82,951,170 (GRCm39) missense probably benign 0.22
R6315:Fgb UTSW 3 82,952,362 (GRCm39) missense probably benign 0.00
R6469:Fgb UTSW 3 82,953,449 (GRCm39) nonsense probably null
R6664:Fgb UTSW 3 82,954,066 (GRCm39) missense probably damaging 1.00
R6725:Fgb UTSW 3 82,951,098 (GRCm39) missense probably damaging 1.00
R6727:Fgb UTSW 3 82,954,094 (GRCm39) missense possibly damaging 0.62
R6830:Fgb UTSW 3 82,952,332 (GRCm39) missense probably benign 0.07
R7016:Fgb UTSW 3 82,953,371 (GRCm39) missense probably benign 0.01
R7132:Fgb UTSW 3 82,954,053 (GRCm39) nonsense probably null
R7371:Fgb UTSW 3 82,953,359 (GRCm39) missense probably damaging 0.99
R7430:Fgb UTSW 3 82,954,014 (GRCm39) missense probably benign 0.26
R7681:Fgb UTSW 3 82,957,139 (GRCm39) start gained probably benign
R7811:Fgb UTSW 3 82,957,004 (GRCm39) missense probably benign
R8171:Fgb UTSW 3 82,949,822 (GRCm39) missense probably damaging 0.99
R8787:Fgb UTSW 3 82,953,969 (GRCm39) missense probably benign 0.00
R9526:Fgb UTSW 3 82,957,122 (GRCm39) start gained probably benign
R9562:Fgb UTSW 3 82,952,409 (GRCm39) critical splice acceptor site probably null
Z1177:Fgb UTSW 3 82,952,363 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCTCACCCTGGAGAAACGAAGG -3'
(R):5'- GTTCAGCCAACAAGTGAACC -3'

Sequencing Primer
(F):5'- CCTGGAGAAACGAAGGTGAATCATC -3'
(R):5'- GAGGTAACCATTCCTGAAGTCATGC -3'
Posted On 2014-09-17